Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

Lauren Fishbein, Sanika Khare, Bradley Wubbenhorst, Daniel DeSloover, Kurt D’Andrea, Shana Merrill, Nam Woo Cho, Roger A. Greenberg, Tobias Else, Kathleen Montone, Virginia LiVolsi, Douglas Fraker, Robert Daber, Debbie L. Cohen and Katherine L. Nathanson ()
Additional contact information
Lauren Fishbein: Diabetes and Metabolism, Perelman School of Medicine at the University of Pennsylvania
Sanika Khare: Perelman School of Medicine at the University of Pennsylvania
Bradley Wubbenhorst: Perelman School of Medicine at the University of Pennsylvania
Daniel DeSloover: Perelman School of Medicine at the University of Pennsylvania
Kurt D’Andrea: Perelman School of Medicine at the University of Pennsylvania
Shana Merrill: Perelman School of Medicine at the University of Pennsylvania
Nam Woo Cho: University of Pennsylvania
Roger A. Greenberg: University of Pennsylvania
Tobias Else: Endocrinology and Diabetes, University of Michigan Health System
Kathleen Montone: Perelman School of Medicine at the University of Pennsylvania
Virginia LiVolsi: Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
Douglas Fraker: Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
Robert Daber: Center for Personalized Diagnostics, University of Pennsylvania
Debbie L. Cohen: Perelman School of Medicine at the University of Pennsylvania
Katherine L. Nathanson: Perelman School of Medicine at the University of Pennsylvania

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: Abstract Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most commonly associated with an inherited susceptibility syndrome. However, very little is known about the somatic genetic changes leading to tumorigenesis or malignant transformation. Here we perform whole-exome sequencing on a discovery set of 21 PCC/PGL and identify somatic ATRX mutations in two SDHB-associated tumours. Targeted sequencing of a separate validation set of 103 PCC/PGL identifies somatic ATRX mutations in 12.6% of PCC/PGL. PCC/PGL with somatic ATRX mutations are associated with alternative lengthening of telomeres and clinically aggressive behaviour. This finding suggests that loss of ATRX, an SWI/SNF chromatin remodelling protein, is important in the development of clinically aggressive PCC/PGL.

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/ncomms7140 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7140

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms7140

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().